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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-218367747-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218367747&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218367747,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001320865.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.947G>C",
"hgvs_p": "p.Ser316Thr",
"transcript": "NM_198559.2",
"protein_id": "NP_940961.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 387,
"cds_start": 947,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 1322,
"mane_select": "ENST00000289388.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198559.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.947G>C",
"hgvs_p": "p.Ser316Thr",
"transcript": "ENST00000289388.4",
"protein_id": "ENSP00000289388.3",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 387,
"cds_start": 947,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 1322,
"mane_select": "NM_198559.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289388.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP-AS1",
"gene_hgnc_id": 41080,
"hgvs_c": "n.160C>G",
"hgvs_p": null,
"transcript": "ENST00000441749.3",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000441749.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.980G>C",
"hgvs_p": "p.Ser327Thr",
"transcript": "NM_001320865.2",
"protein_id": "NP_001307794.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 398,
"cds_start": 980,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320865.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.980G>C",
"hgvs_p": "p.Ser327Thr",
"transcript": "ENST00000851696.1",
"protein_id": "ENSP00000521755.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 398,
"cds_start": 980,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851696.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.854G>C",
"hgvs_p": "p.Ser285Thr",
"transcript": "ENST00000851694.1",
"protein_id": "ENSP00000521753.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 356,
"cds_start": 854,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851694.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.812G>C",
"hgvs_p": "p.Ser271Thr",
"transcript": "ENST00000851695.1",
"protein_id": "ENSP00000521754.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 342,
"cds_start": 812,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851695.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Ser260Thr",
"transcript": "ENST00000851693.1",
"protein_id": "ENSP00000521752.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 331,
"cds_start": 779,
"cds_end": null,
"cds_length": 996,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851693.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.485G>C",
"hgvs_p": "p.Ser162Thr",
"transcript": "ENST00000715906.1",
"protein_id": "ENSP00000520539.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 233,
"cds_start": 485,
"cds_end": null,
"cds_length": 702,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715906.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.854G>C",
"hgvs_p": "p.Ser285Thr",
"transcript": "XM_005246539.5",
"protein_id": "XP_005246596.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 356,
"cds_start": 854,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246539.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.812G>C",
"hgvs_p": "p.Ser271Thr",
"transcript": "XM_011511148.3",
"protein_id": "XP_011509450.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 342,
"cds_start": 812,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511148.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.653G>C",
"hgvs_p": "p.Ser218Thr",
"transcript": "XM_005246541.5",
"protein_id": "XP_005246598.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 289,
"cds_start": 653,
"cds_end": null,
"cds_length": 870,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246541.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Ser201Thr",
"transcript": "XM_011511149.3",
"protein_id": "XP_011509451.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 272,
"cds_start": 602,
"cds_end": null,
"cds_length": 819,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511149.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Ser201Thr",
"transcript": "XM_011511150.3",
"protein_id": "XP_011509452.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 272,
"cds_start": 602,
"cds_end": null,
"cds_length": 819,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511150.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "n.418G>C",
"hgvs_p": null,
"transcript": "ENST00000481940.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481940.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "n.2037G>C",
"hgvs_p": null,
"transcript": "ENST00000494447.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP-AS1",
"gene_hgnc_id": 41080,
"hgvs_c": "n.145C>G",
"hgvs_p": null,
"transcript": "ENST00000828658.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 595,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000828658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP-AS1",
"gene_hgnc_id": 41080,
"hgvs_c": "n.156C>G",
"hgvs_p": null,
"transcript": "NR_110573.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CATIP-AS1",
"gene_hgnc_id": 41080,
"hgvs_c": "n.482+419C>G",
"hgvs_p": null,
"transcript": "ENST00000828657.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 776,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000828657.1"
}
],
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"dbsnp": "rs139704670",
"frequency_reference_population": 0.00046183396,
"hom_count_reference_population": 6,
"allele_count_reference_population": 742,
"gnomad_exomes_af": 0.000254412,
"gnomad_genomes_af": 0.00244248,
"gnomad_exomes_ac": 370,
"gnomad_genomes_ac": 372,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007856249809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.0855,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.155,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001320865.2",
"gene_symbol": "CATIP",
"hgnc_id": 25062,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.980G>C",
"hgvs_p": "p.Ser327Thr"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000441749.3",
"gene_symbol": "CATIP-AS1",
"hgnc_id": 41080,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.160C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}